JAK2 Mutation - Effects and Questions

Thanks for the article. It was useful. It seems to me when discussions get moved, they are just buried in old discussions, so I'm not sure this will not get any replies other than that of the moderator. But, I appreciate the article you did send. It is very useful, and along with some other internet research, indicates that it is possible to test positive for the mutation without having overt disease. Given my consistently high WBC counts, I'm going to *guess* that the mutation has already had some effect, but will have to wait for a bone marrow biopsy to be certain. And, my allele burden is significantly above the cut off typically given for "mutation in healthy individuals" ...although my testing was done in purified granulocytes, while the articles report testing in whole blood, so I'm not certain if the numbers can be meaningfully compared. Ugh! I have just enough information to be worry over the holidays, without enough information to have any sort of a plan.

Hello @apr931,

Welcome to Connect. You may notice that I moved your message to combine it with this existing discussion on JAK2 Mutation. I did this as I thought it would be beneficial for you to be introduced to other members who have discussed JAK2 Mutation.
If you click on VIEW & REPLY in your email notification, you will see the whole discussion and can join in, meet, and participate with other members talking about their or their loved ones' experiences.

You pose a very interesting question, and I hope that members participating in this discussion will return with some more information for you. As you mentioned, after doing a bit of research online here’s what I also found – people can carry the mutation and not develop MPNs (myeloproliferative neoplasm), while others who do not have the mutation may still suffer from an MPN. There seems to be considerable uncertainty about prognosis in JAK2 positive individuals without overt signs of myeloproliferative disease. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562533/

Hello all. About a year ago, I had a nephrectomy due to renal cell carcinoma. Since then, I've had bleeding events, high WBC count (up to 25,000), corresponding high granulocyte counts, and slight anemia, and overwhelming waves of nausea. My oncologist always chalked it up to stress and anxiety. But, recently did a test for JAK2 mutation and it came back positive. I found out about it online from the diagnostic lab results, my oncologist refuses to talk to me about it on the phone, and now need to wait weeks until after the holidays for appointment. Of course, this leaves me to searching the internet and trying to piece together information-- never a good thing! I can see this mutation is positive in X% of patients with PV, ET, PMF, but what I'm trying to figure out is the opposite statistic-- what is the possibility that I HAVE this gene, but DO NOT have any problems associated with the gene. I know that nobody can diagnose me online, but wondering if it's POSSIBLE to have the mutation with no associated disease?

Thank you. Just diagnosed 2 weeks ago but my ENT has trie to get rid of the ear infection to no avail. Wondering if it could be related. My hematologist told me to google leukemia & lymphoma society for more info

@carlavan, welcome to Connect. I moved your discussion to the Blood Cancers & Disorders group and combined it with a discussion where other members are talking about JAK2 mutations and essential thrombocytosis. While we wait for other members to jump in, would you mind sharing a bit more about yourself? Have you talked with your hematologist or medical provider about the possible connection between your ear infection and essential thrombocytosis?

I have had an ear infection that resists treatment for the last 2 years & 2 surgeries. Is it possible my disease is the underlying problem?

I'm happy to share my experience. #1. No, do not need to give blood. The Hydrea is toxic enough to kill the excess platelets. #2. I have experimented over the years to cut back a little from the prescribed dosage simply to minimize the amount of toxicity I'm consuming. My Docs have not liked this kind of fooling around with the dosage. So I've been steady at 6 days a week, no Sundays for about a year. No side effects from the Hydrea after the initial first month twenty years ago. #3. I still have no symptoms of this strange blood disorder called ET, regardless what my count is on any given day. I go every 3 months for a cbc. It puzzles me that at 72, I still feel the same with a count of 480 as I did at age 40 when I was diagnosed with a count of 800. #4. My two Docs (first one retired) have dangled the ultimate fear over me since the diagnosis, but so far my ET has not morphed into leukemia. Having no symptoms and in disbelief, I went to the Scottsdale Mayo Clinic for a second opinion at some point in the 1990s. Same diagnosis. Very disappointing because I was really convinced that nothing was wrong with me. Thanks for sharing the NIH info. I always like to run across updated information on PV,ET, and other blood disorders. You may never progress to anything more advanced. Best wishes.

@misty45, Thank you for replying and telling me your story. Having a positive JAK2 result, I'm still in that waiting stage also to see which way it is going to affect me. Whether it will be polycythemia vera (PV), essential thrombocythemia (ET), or leukemia. Since none have yet reared their ugly head, I am tested every 3 months and am not on any medication for this. I do have a few questions for you if you don't mind answering them: 1) Along with your current medication, do you have to give blood to get rid of the extra platelets or does the medication reduce the amount of platelets your bone marrow is producing without having to give blood? 2) Since you obviously have tried cutting back on the prescribed medication, was that because of side effects? If so, what side effects did it cause for you? 3) Can you tell when your platelets are high (do you have symptoms?) or not? 4) From what you've experienced, found out or been told, does having ET mean that leukemia is the next guaranteed step in this disease or is it possible that will never happen? I'm so glad (dare I say relieved) to hear that you have survived all these years with this disease without it progressing into anything worse and hope that that will continue for many years to come. There was an article I saw from the National Institute of Health (NIH) that tested well over 10,000 people and tracked them for many years. From those 10,000+ people, they found only 15 that had the JAK2 mutation and determined that only 3 of the 15 died as a direct result of their disease well into their 70's or 80's. The remaining 12 died from other causes. I'm in my mid-60's with no other major health issues so that really helped me wrap my head around some of this and encouraged me.

I have ET, and have tested negative for the JAC2. I've been taking Hydrea 500mg for almost 20 years. Still waiting for the day I get the news I may have acute leukemia. My hematologist says taking it every other day is not good enough because that keeps my platelets only at around 520. He wants me at below 500. I tried not taking it, but my platelet count went back up to 800s. For years I have hoped a cure for Essential Thrombocythemia would come along, but still waiting.

Thanks. I think I would have been surprised a little if they did. However, I am from that "waste not, want not" generation so I had to ask.